Canonical Allele Identifier: CA866340053
Gene: FXN HGNC NCBI

Linked Data

dbSNP Id: rs1245212438
gnomAD v3: 9-69035624-T-C
gnomAD v4: 9-69035624-T-C
MyVariant Identifiers: chr9:g.71650540T>C (hg19) chr9:g.69035624T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69035624T>C , CM000671.2:g.69035624T>C GRCh38
NC_000009.11:g.71650540T>C , CM000671.1:g.71650540T>C GRCh37
NC_000009.10:g.70840360T>C NCBI36
NG_008845.2:g.5062T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377270.7:c.-159T>C ENSP00000366482.3:n.-159T>C
ENST00000396364.7:c.-159T>C ENSP00000379650.3:n.-159T>C
NM_000144.4:c.-159T>C NP_000135.2:n.-159T>C
NM_001161706.1:c.-159T>C NP_001155178.1:n.-159T>C
NM_181425.2:c.-159T>C NP_852090.1:n.-159T>C
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